Detalhe da pesquisa
1.
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.
Am J Hum Genet
; 110(4): 681-690, 2023 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36996813
2.
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
Brain
; 145(4): 1507-1518, 2022 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34791078
3.
Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study.
Neuropediatrics
; 54(4): 225-238, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36787800
4.
Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease.
iScience
; 24(1): 101948, 2021 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33458610
5.
Severe neurodevelopmental disease caused by a homozygous TLK2 variant.
Eur J Hum Genet
; 28(3): 383-387, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31558842
6.
COL4A1-related autosomal recessive encephalopathy in 2 Turkish children.
Neurol Genet
; 6(1): e392, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32042920
7.
Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families.
J Neuromuscul Dis
; 7(3): 301-308, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32444556
8.
Dihydropyridine Receptor Congenital Myopathy In A Consangineous Turkish Family.
J Neuromuscul Dis
; 6(3): 377-384, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31227654